Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999594403 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031991)
  • known disease mutation: rs16250 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:49190261C>TN/A show variant in all transcripts   IGV
HGNC symbol FSHR
Ensembl transcript ID ENST00000541117
Genbank transcript ID N/A
UniProt peptide P23945
alteration type single base exchange
alteration region CDS
DNA changes c.907G>A
cDNA.1460G>A
g.191416G>A
AA changes D303N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 303
frameshift no
known variant Reference ID: rs28928871
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16250 (pathogenic for Ovarian hyperstimulation syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM031991)

known disease mutation at this position, please check HGMD for details (HGMD ID CM031991)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031991)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)4.8871
5.9131
(flanking)-0.1690.886
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased191414wt: 0.8955 / mu: 0.8982 (marginal change - not scored)wt: CAACATCGTGTCCTCCTCTAGTGACACCAGGATCGCCAAGC
mu: CAACATCGTGTCCTCCTCTAGTAACACCAGGATCGCCAAGC		 ctag|TGAC
Acc marginally increased191413wt: 0.9554 / mu: 0.9588 (marginal change - not scored)wt: CCAACATCGTGTCCTCCTCTAGTGACACCAGGATCGCCAAG
mu: CCAACATCGTGTCCTCCTCTAGTAACACCAGGATCGCCAAG		 tcta|GTGA
Donor marginally increased191413wt: 0.9668 / mu: 0.9696 (marginal change - not scored)wt: CCTCTAGTGACACCA
mu: CCTCTAGTAACACCA		 TCTA|gtga
distance from splice site 408
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      303VRNPNIVSSSSDTRIAKRMAMLIF
mutated  all conserved    303SSNTRIAKRMAMLI
Ptroglodytes  all identical  ENSPTRG00000011914  567SSDTRIAKRMAMLI
Mmulatta  all identical  ENSMMUG00000017196  567SSDTRIAKRMAMLI
Fcatus  all identical  ENSFCAG00000001215  567SSDTKIAKRMAMLI
Mmusculus  all identical  ENSMUSG00000032937  566SRDTKIAKRMATLI
Ggallus  all identical  ENSGALG00000009100  567NSDTKIAKRMAILI
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000071494  548ADMRIAKRMAVLI
Dmelanogaster  all conserved  FBgn0016650  694LGRETRQAHQNSPGELSVAKKMALL
Celegans  all identical  C50H2.1  634LKENE--TREEDRALITKMTVLV
Xtropicalis  all identical  ENSXETG00000025827  469SSNSDTKIAKRMAILI
protein features
start (aa)end (aa)featuredetails 
18366TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1296 / 1296
position (AA) of stopcodon in wt / mu AA sequence 432 / 432
position of stopcodon in wt / mu cDNA 1849 / 1849
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 554 / 554
chromosome 2
strand -1
last intron/exon boundary 616
theoretical NMD boundary in CDS 12
length of CDS 1296
coding sequence (CDS) position 907
cDNA position
(for ins/del: last normal base / first normal base)		 1460
gDNA position
(for ins/del: last normal base / first normal base)		 191416
chromosomal position
(for ins/del: last normal base / first normal base)		 49190261
original gDNA sequence snippet ACATCGTGTCCTCCTCTAGTGACACCAGGATCGCCAAGCGC
altered gDNA sequence snippet ACATCGTGTCCTCCTCTAGTAACACCAGGATCGCCAAGCGC
original cDNA sequence snippet ACATCGTGTCCTCCTCTAGTGACACCAGGATCGCCAAGCGC
altered cDNA sequence snippet ACATCGTGTCCTCCTCTAGTAACACCAGGATCGCCAAGCGC
wildtype AA sequence MEASLTYPSH CCAFANWRRQ ISELHPICNK SILRQEVDYM TQARGQRSSL AEDNESSYSR
GFDMTYTEFD YDLCNEVVDV TCSPKPDAFN PCEDIMGYNI LRVLIWFISI LAITGNIIVL
VILTTSQYKL TVPRFLMCNL AFADLCIGIY LLLIASVDIH TKSQYHNYAI DWQTGAGCDA
AGFFTVFASE LSVYTLTAIT LERWHTITHA MQLDCKVQLR HAASVMVMGW IFAFAAALFP
IFGISSYMKV SICLPMDIDS PLSQLYVMSL LVLNVLAFVV ICGCYIHIYL TVRNPNIVSS
SSDTRIAKRM AMLIFTDFLC MAPISFFAIS ASLKVPLITV SKAKILLVLF HPINSCANPF
LYAIFTKNFR RDFFILLSKC GCYEMQAQIY RTETSSTVHN THPRNGHCSS APRVTSGSTY
ILVPLSHLAQ N*
mutated AA sequence MEASLTYPSH CCAFANWRRQ ISELHPICNK SILRQEVDYM TQARGQRSSL AEDNESSYSR
GFDMTYTEFD YDLCNEVVDV TCSPKPDAFN PCEDIMGYNI LRVLIWFISI LAITGNIIVL
VILTTSQYKL TVPRFLMCNL AFADLCIGIY LLLIASVDIH TKSQYHNYAI DWQTGAGCDA
AGFFTVFASE LSVYTLTAIT LERWHTITHA MQLDCKVQLR HAASVMVMGW IFAFAAALFP
IFGISSYMKV SICLPMDIDS PLSQLYVMSL LVLNVLAFVV ICGCYIHIYL TVRNPNIVSS
SSNTRIAKRM AMLIFTDFLC MAPISFFAIS ASLKVPLITV SKAKILLVLF HPINSCANPF
LYAIFTKNFR RDFFILLSKC GCYEMQAQIY RTETSSTVHN THPRNGHCSS APRVTSGSTY
ILVPLSHLAQ N*
speed 0.98 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project